RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Tremor
Accession: DOID:9000495
browse the term
Definition: Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE.
Synonyms: exact_synonym: Action Tremor; Action Tremors; Coarse Tremor; Coarse Tremors; Continuous Tremor; Continuous Tremors; Darkness Tremor; Darkness Tremors; Fine Tremor; Fine Tremors; Intention Tremor; Intention Tremors; Intermittent Tremor; Intermittent Tremors; Involuntary Quiver; Involuntary Quivers; Limb Tremor; Limb Tremors; Massive Tremor; Massive Tremors; Muscle Tremor; Muscle Tremors; Neonatal Tremor; Neonatal Tremors; Nerve Tremor; Nerve Tremors; Passive Tremor; Passive Tremors; Perioral Tremor; Perioral Tremors; Persistent Tremor; Persistent Tremors; Pill Rolling Tremor; Pill Rolling Tremors; Rest Tremor; Rest Tremors; Resting Tremor; Resting Tremors; Saturnine Tremor; Saturnine Tremors; Semirhythmic Tremor; Semirhythmic Tremors; Senile Tremor; Senile Tremors; Static Tremor; Static Tremors; Tremors
primary_id: MESH:D014202
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ACHE
acetylcholinesterase (Yt blood group)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27083141
NCBI chr 7:92,915,065...92,922,079
Ensembl chr 7:106,311,944...106,318,184
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ADORA2A
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16780890
NCBI chr22:5,233,876...5,248,622
Ensembl chr22:22,104,253...22,114,189
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ADRB2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:190674 PMID:7902979 PMID:8102213 PMID:9151294
NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
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ASF1A
anti-silencing function 1A histone chaperone
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:116,702,314...116,717,445
Ensembl chr 6:120,843,461...120,858,471
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ASPA
aspartoacylase
ISO
associated with Hcn1A354V allele
RGD
PMID:27026062
RGD:13464274
NCBI chr17:3,492,304...3,517,882
Ensembl chr17:3,522,858...3,546,279
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ATP2B3
ATPase plasma membrane Ca2+ transporting 3
ISO
RGD
PMID:27013529
RGD:13825260
NCBI chr X:143,068,171...143,133,479
Ensembl chr X:152,955,109...153,019,445
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ATP7A
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22815746
NCBI chr X:67,093,675...67,231,318
Ensembl chr X:77,255,312...77,342,756
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ATRN
attractin
ISO
DNA:deletion:exon
RGD
PMID:12379762
RGD:1299186
NCBI chr20:3,556,445...3,733,322
Ensembl chr20:3,315,278...3,486,628
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Intention tremor
ClinVar
PMID:28492532
NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
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CACNA1C
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Intention tremor
ClinVar
NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
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CALHM4
calcium homeostasis modulator family member 4
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:114,337,385...114,369,423
Ensembl chr 6:118,482,269...118,512,046
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CALHM5
calcium homeostasis modulator family member 5
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:114,319,599...114,325,898
Ensembl chr 6:118,464,517...118,471,411
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CALHM6
calcium homeostasis modulator family member 6
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:114,263,062...114,265,898
Ensembl chr 6:118,409,813...118,411,574
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CEP85L
centrosomal protein 85 like
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
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CHRM4
cholinergic receptor muscarinic 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9920179
NCBI chr11:46,342,384...46,350,366
Ensembl chr11:46,894,615...46,896,054
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CPLX1
complexin 1
ISO
RGD
PMID:31875236
RGD:127285808
NCBI chr 4:889,037...930,046
Ensembl chr 4:819,833...858,953
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DCBLD1
discoidin, CUB and LCCL domain containing 1
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:115,290,931...115,358,249
Ensembl chr 6:119,434,847...119,519,282
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DSE
dermatan sulfate epimerase
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:114,173,641...114,246,129
Ensembl chr 6:118,347,786...118,386,193
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FAM162B
family with sequence similarity 162 member B
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:114,534,874...114,573,958
Ensembl chr 6:118,704,146...118,717,760
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FAM184A
family with sequence similarity 184 member A
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:116,768,098...116,957,070
Ensembl chr 6:120,908,644...121,026,173
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GBA1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: Resting tremor
ClinVar
PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8929950 PMID:9375849 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:14757438 PMID:15146461 PMID:15605411 PMID:16293621 PMID:16967369 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18541817 PMID:18987351 PMID:19286695 PMID:20004703 PMID:20301446 PMID:20816920 PMID:21106416 PMID:21228398 PMID:21472771 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22623374 PMID:22713811 PMID:22975760 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24522292 PMID:25249066 PMID:25333069 PMID:25535748 PMID:25741868 PMID:26096741 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27717005 PMID:27865684 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28894968 PMID:28947706 PMID:28969384 PMID:29029963 PMID:29471591 PMID:29487000 PMID:29602947 PMID:29625627 PMID:29934114 PMID:30146349 PMID:30285649 PMID:30456712 PMID:30548430 PMID:30606667 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31216804 PMID:31561936 PMID:32014045 PMID:32618053 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
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GLI2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:25741868
NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
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GOPC
golgi associated PDZ and coiled-coil motif containing
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:115,368,682...115,411,140
Ensembl chr 6:119,509,936...119,552,010
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GPRC6A
G protein-coupled receptor class C group 6 member A
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:114,601,360...114,638,286
Ensembl chr 6:118,744,929...118,781,099
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HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
ISO
DNA:missense mutation:cds:c.1061C>T, p.A354V(rat)
RGD
PMID:25970616
RGD:11060746
NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761
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HTR1A
5-hydroxytryptamine receptor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11070179
NCBI chr 5:50,045,266...50,049,636
Ensembl chr 5:51,692,416...51,693,684
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KPNA5
karyopherin subunit alpha 5
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:114,488,850...114,550,061
Ensembl chr 6:118,641,551...118,684,486
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LOC100988273
cytochrome P450 2D6-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15570195
NCBI chr22:23,022,449...23,031,627
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MAN1A1
mannosidase alpha class 1A member 1
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:116,984,842...117,157,623
Ensembl chr 6:121,127,656...121,298,196
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MCM9
minichromosome maintenance 9 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:116,620,188...116,743,435
Ensembl chr 6:120,763,329...120,881,865
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MPZ
myelin protein zero
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:25741868
NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
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NUS1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:115,486,422...115,521,317
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PLN
phospholamban
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
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PRKAR1B
protein kinase cAMP-dependent type I regulatory subunit beta
ISO
RGD
PMID:33479380
RGD:150519900
NCBI chr 7:700,691...876,497
Ensembl chr 7:923,668...1,097,456
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REL
REL proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31481676
NCBI chr2A:60,972,022...61,013,562
Ensembl chr2A:62,113,581...62,155,241
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RFX6
regulatory factor X6
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:114,686,132...114,741,072
Ensembl chr 6:118,828,973...118,883,884
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ROS1
ROS proto-oncogene 1, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053
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RSPH4A
radial spoke head component 4A
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:114,423,322...114,441,199
Ensembl chr 6:118,568,907...118,585,812
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RWDD1
RWD domain containing 1
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:114,379,178...114,401,570
Ensembl chr 6:118,524,052...118,546,373
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SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19261867
NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
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SLC35F1
solute carrier family 35 member F1
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:115,718,178...116,127,742
Ensembl chr 6:120,108,341...120,268,465
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STXBP1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: tremors
ClinVar
PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 PMID:26384463 PMID:26865513 PMID:26918652 PMID:27159321 PMID:28135719 PMID:28492532 More...
NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
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TBC1D24
TBC1 domain family member 24
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
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TMEM67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 More...
NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437
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TRAPPC3L
trafficking protein particle complex subunit 3L
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:114,303,027...114,355,958
Ensembl chr 6:118,449,441...118,498,836
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TRH
thyrotropin releasing hormone
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:103733 PMID:416961
NCBI chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736
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UNC13A
unc-13 homolog A
ISO
ClinVar Annotator: match by term: tremors
ClinVar
PMID:25741868 PMID:28192369
NCBI chr19:17,088,654...17,175,559
Ensembl chr19:18,068,006...18,150,642
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VGLL2
vestigial like family member 2
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:115,073,919...115,082,212
Ensembl chr 6:119,215,683...119,223,541
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ZUP1
zinc finger containing ubiquitin peptidase 1
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr 6:114,443,844...114,477,220
Ensembl chr 6:118,598,031...118,621,081
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POU4F1
POU class 4 homeobox 1
ISO
ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | ClinVar Annotator: match by term: POU4F1-related condition
OMIM ClinVar
PMID:8876243 PMID:25741868 PMID:28492532 PMID:29758562 PMID:33783914
NCBI chr13:59,821,614...59,829,671
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SLC44A1
solute carrier family 44 member 1
ISO
ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
OMIM ClinVar
PMID:25741868 PMID:28097321 PMID:31855247
NCBI chr 9:76,417,869...76,612,233
Ensembl chr 9:104,597,755...104,737,620
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MYBPC1
myosin binding protein C1
ISO
ClinVar Annotator: match by term: MYOGENIC TREMOR | ClinVar Annotator: match by term: Myopathy, congenital, with tremor
OMIM ClinVar
PMID:18414213 PMID:22610851 PMID:25741868 PMID:28492532 PMID:31025394 PMID:31264822 More...
NCBI chr12:99,179,611...99,269,521
Ensembl chr12:102,578,014...102,669,618
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CCDC183
coiled-coil domain containing 183
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166
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DNAJC13
DnaJ heat shock protein family (Hsp40) member C13
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:24218364 PMID:25118025 PMID:27270108
NCBI chr 3:129,492,658...129,612,040
Ensembl chr 3:136,970,007...137,088,775
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DNHD1
dynein heavy chain domain 1
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:25741868 PMID:28492532 PMID:33279834
NCBI chr11:6,628,568...6,703,994
Ensembl chr11:6,312,254...6,386,993
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DRD3
dopamine receptor D3
treatment
ISO
ClinVar Annotator: match by term: Essential tremor, susceptibility to | ClinVar Annotator: match by term: Hereditary essential tremor
RGD ClinVar
PMID:1362221 PMID:8225313 PMID:8411064 PMID:9514583 PMID:16650084 PMID:16809426 PMID:17339592 PMID:25741868 PMID:26459182 More...
RGD:13506957
NCBI chr 3:111,265,834...111,317,176
Ensembl chr 3:118,187,636...118,237,403
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FAM228B
family with sequence similarity 228 member B
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr2A:24,074,642...24,166,411
Ensembl chr2A:24,218,442...24,261,486
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GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15765150
NCBI chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117
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GEMIN5
gem nuclear organelle associated protein 5
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr 5:150,290,809...150,342,124
Ensembl chr 5:156,285,679...156,335,750
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GPR151
G protein-coupled receptor 151
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:28492532 PMID:33279834
NCBI chr 5:141,960,691...141,963,922
Ensembl chr 5:147,975,633...147,976,892
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GSTP1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18215156
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
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HNMT
histamine N-methyltransferase
no_association
ISO
RGD
PMID:18543121 PMID:19773194
RGD:5509775 RGD:5509776
NCBI chr2B:21,840,342...21,892,744
Ensembl chr2B:142,036,321...142,088,315
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KCNN2
potassium calcium-activated channel subfamily N member 2
ISO
DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat)
RGD
PMID:28917524
RGD:38508907
NCBI chr 5:109,722,916...109,862,747
Ensembl chr 5:115,522,443...115,661,079
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LINGO1
leucine rich repeat and Ig domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19182806
NCBI chr15:56,424,422...56,747,075
Ensembl chr15:72,328,079...72,347,016
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LOC100974017
olfactory receptor 5K4
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr 3:95,447,849...95,448,799
Ensembl chr 3:102,131,411...102,132,316
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LOC100974357
olfactory receptor 5K3
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr 3:95,481,458...95,482,423
Ensembl chr 3:102,164,856...102,165,821
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MAPT
microtubule associated protein tau
no_association
ISO
DNA:SNP: :rs1052553 (human)
RGD
PMID:22911817
RGD:8158098
NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129
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MS4A14
membrane spanning 4-domains A14
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr11:55,632,378...55,653,574
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MYO6
myosin VI
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:12687499 PMID:18348273 PMID:23767834 PMID:25080041 PMID:25741868 PMID:25999546 PMID:26969326 PMID:28492532 PMID:30582396 PMID:33279834 PMID:33297549 More...
NCBI chr 6:73,593,794...73,764,352
Ensembl chr 6:76,951,634...77,048,796
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PRSS48
serine protease 48
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr 4:143,616,669...143,631,579
Ensembl chr 4:155,250,736...155,283,216
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SH3D19
SH3 domain containing 19
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr 4:143,460,618...143,664,796
Ensembl chr 4:155,115,280...155,217,392
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TGM4
transglutaminase 4
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr 3:44,775,855...44,815,691
Ensembl chr 3:45,830,764...45,870,208
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ZNF528
zinc finger protein 528
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:25741868 PMID:28492532 PMID:33279834
NCBI chr19:49,346,292...49,367,704
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ANKRD11
ankyrin repeat domain containing 11
ISO
ClinVar Annotator: match by term: Hand tremor
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr16:69,994,926...70,242,659
Ensembl chr16:89,633,849...89,683,311
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ATP7B
ATPase copper transporting beta
ISO
ClinVar Annotator: match by term: Hand tremor
ClinVar
PMID:25741868
NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
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DRD3
dopamine receptor D3
ISO
ClinVar Annotator: match by term: Tremor, hereditary essential, 1
ClinVar OMIM
PMID:1362221 PMID:8225313 PMID:8411064 PMID:9514583 PMID:16650084 PMID:16809426 PMID:17339592 PMID:25741868 PMID:28492532 More...
NCBI chr 3:111,265,834...111,317,176
Ensembl chr 3:118,187,636...118,237,403
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GLI2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Hand tremor
ClinVar
PMID:25741868
NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
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FUS
FUS RNA binding protein
ISO
ClinVar Annotator: match by term: FUS-related condition | ClinVar Annotator: match by term: Tremor, hereditary essential, 4
OMIM ClinVar
PMID:12840784 PMID:12858291 PMID:16199547 PMID:19251627 PMID:19251628 PMID:19450904 PMID:19741215 PMID:19741216 PMID:19861302 PMID:20018407 PMID:20124201 PMID:20138404 PMID:20142531 PMID:20232451 PMID:20385912 PMID:20544928 PMID:20577002 PMID:20579074 PMID:20598774 PMID:20606625 PMID:20621307 PMID:20660363 PMID:20668259 PMID:20668261 PMID:20674093 PMID:20699327 PMID:21158017 PMID:21261515 PMID:21280085 PMID:21487023 PMID:21604077 PMID:21881207 PMID:21907581 PMID:21943958 PMID:21949354 PMID:21965298 PMID:22055719 PMID:22292843 PMID:22722621 PMID:22863194 PMID:22980027 PMID:23046859 PMID:23056579 PMID:23085990 PMID:23217123 PMID:23577159 PMID:23834335 PMID:23834483 PMID:23881933 PMID:24080306 PMID:24204307 PMID:24262168 PMID:24575823 PMID:24899262 PMID:24908169 PMID:25173930 PMID:25324524 PMID:25382069 PMID:25558820 PMID:25585530 PMID:25625564 PMID:25631824 PMID:25741868 PMID:26251528 PMID:26467025 PMID:26725112 PMID:27123482 PMID:28430856 PMID:28492532 PMID:29486463 PMID:30279455 PMID:31069529 PMID:31475037 PMID:32116048 PMID:32638105 PMID:32951934 PMID:33082139 More...
NCBI chr16:23,775,389...23,786,881
Ensembl chr16:31,551,135...31,562,327
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TENM4
teneurin transmembrane protein 4
ISO
ClinVar Annotator: match by term: TENM4-related condition | ClinVar Annotator: match by term: Tremor, hereditary essential, 5
OMIM ClinVar
PMID:25741868 PMID:26188006 PMID:28158909 PMID:28492532 PMID:34426522
NCBI chr11:73,712,808...75,001,831
Ensembl chr11:77,338,422...77,743,909
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SCN4A
sodium voltage-gated channel alpha subunit 4
ISO
ClinVar Annotator: match by term: Tremor, hereditary essential, 6
ClinVar
PMID:28492532 PMID:34913263
NCBI chr17:58,034,146...58,066,644
Ensembl chr17:63,128,550...63,161,043
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FMR1
fragile X messenger ribonucleoprotein 1
ISO
ClinVar Annotator: match by term: Fragile X tremor/ataxia syndrome | ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome
OMIM ClinVar
PMID:25741868
NCBI chr X:136,937,889...136,976,828
Ensembl chr X:147,365,748...147,405,321
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SOD1
superoxide dismutase 1
ISO
mRNA:increased expression:prefrontal cortex, brain stem (mouse)
RGD
PMID:24418349
RGD:8655858
NCBI chr21:18,029,831...18,037,526
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SMG9
SMG9 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
ClinVar OMIM
PMID:35087184
NCBI chr19:40,679,952...40,704,104
Ensembl chr19:49,285,796...49,309,980
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
15834
Pathological Conditions, Signs and Symptoms
12336
Signs and Symptoms
10382
Neurologic Manifestations
10059
Dyskinesias
2179
Tremor
81
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
1
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
1
Geniospasm
0
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
1
Primary Orthostatic Tremor
0
Tremor of Intention, Ataxia, and Lipofuscinosis
0
congenital myopathy 16
1
essential tremor +
27
fragile X-associated tremor/ataxia syndrome
2
Path 2
disease
15834
disease of anatomical entity
15490
nervous system disease
13586
central nervous system disease
12151
brain disease
11416
movement disease
2556
Dyskinesias
2179
Tremor
81
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
1
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
1
Geniospasm
0
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
1
Primary Orthostatic Tremor
0
Tremor of Intention, Ataxia, and Lipofuscinosis
0
congenital myopathy 16
1
essential tremor +
27
fragile X-associated tremor/ataxia syndrome
2